List of works - Sabina Capellari

'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2.

scientific article published in February 2009

A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family

scientific article published on 01 July 2019

A case of fatal familial insomnia in Africa

scientific article published on 14 June 2009

A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.

scientific article published on 8 February 2016

A new potential biomarker for dementia with Lewy bodies: Skin nerve α-synuclein deposits.

scientific article published on 30 June 2017

A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea

article

A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia

article

A refined method for molecular typing reveals that co-occurrence of PrP(Sc) types in Creutzfeldt-Jakob disease is not the rule

scientific article published on 24 September 2007

A subtype of sporadic prion disease mimicking fatal familial insomnia.

scientific article

Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the gene

article

Age of onset in genetic prion disease and the design of preventive clinical trials

Allelic origin of the abnormal prion protein isoform in familial prion diseases

scientific article published on 01 September 1997

An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.

scientific article published on 21 August 2010

An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia

scientific article published on 9 December 2017

Analyses of protease resistance and aggregation state of abnormal prion protein across the spectrum of human prions

scientific article published on 29 July 2013

Analysis of Conformational Stability of Abnormal Prion Protein Aggregates across the Spectrum of Creutzfeldt-Jakob Disease Prions

scientific article

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

scientific article published on 28 May 2013

Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease

scientific article published on 16 November 2018

Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.

scientific article published in March 1994

Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

scientific article

Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature.

scientific article published on 23 November 2017

Behçet disease presenting with movement disorders and antibasal ganglia antibodies.

scientific article published on 27 November 2015

Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy

scientific article

Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease

scientific article published in January 2010

Cerebrospinal Fluid Biomarkers in Patients with Frontotemporal Dementia Spectrum: A Single-Center Study

scientific article published on 01 January 2018

Characterization of the F198S prion protein mutation: enhanced glycosylation and defective refolding.

scientific article

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

Clinical pharmacokinetics of pramipexole, ropinirole and rotigotine in patients with Parkinson's disease

scientific article published on 08 November 2018

Cognitive Rehabilitation and Transcranial Direct Current Stimulation in a Patient with Posterior Cortical Atrophy: An fMRI Study

scientific article published on 21 June 2018

Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene

scientific article published in November 2002

Creutzfeldt-Jakob disease with long duration and panencephalopathic lesions: molecular analysis of one case.

scientific article

Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and Aβ42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants

scientific article

Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family.

scientific article

Early pathologic and biochemical changes in Creutzfeldt-Jakob disease: study of brain biopsies

scientific article published on 01 June 1996

Eating disorder as a psychiatric onset of juvenile Huntington's disease

scientific article

Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD.

scientific article published on 29 January 2004

Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study

scientific article published on 23 April 2007

Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.

scientific article published in July 1997

From ritual sword duel to electrophysiology: hyperactive facial motor nucleus in hemifacial spasm

scientific article published on 12 April 2012

Gait disorders in fatal familial insomnia.

scientific article published on 27 December 2013

Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis

scientific article published on 27 October 2010

Genomics and epigenomics

scientific article published on December 2015

High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.

scientific article published on 6 September 2017

Human figure drawing distinguishes Alzheimer's patients: a cognitive screening test study

scientific article published on 17 February 2018

Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects

scientific article

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing

scientific article published on 13 February 2018

Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification

scientific article published on 29 August 2009

Inherited prion disease caused by the V210I mutation: transmission to transgenic mice.

scientific article

Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.

scientific article published in February 2002

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

scholarly article by Marialuisa Quadri et al published July 2018 in Lancet Neurology

Lack of association between five serotonin metabolism-related genes and medication overuse headache

scientific article

Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts

scientific article

Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?

scientific article

MV2 subtype of sporadic Creutzfeldt-Jakob disease presenting as corticobasal syndrome.

scientific article published in April 2007

Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study.

scientific article published on 15 September 2009

Mechanisms of phenotypic heterogeneity in prion, Alzheimer and other conformational diseases

scientific article published on 01 February 2001

Messenger RNA processing is altered in autosomal dominant leukodystrophy

scientific article published on 30 January 2015

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

scientific article

Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).

scientific article published on 17 December 2017

Mixed brain pathologies in dementia: the BrainNet Europe consortium experience

scientific article published on 10 October 2008

Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases

scientific article published on 01 November 2019

Molecular Pathology of Fatal Familial Insomnia ⬇️

scientific article published on July 1, 1998

Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation

scientific article published on 18 March 2008

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

scientific article published on 15 June 2017

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation

scientific article published on 22 May 2017

Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt-Jakob disease patients.

scientific article

Neurosyphilis orofacial dyskinesia: the candy sign

scientific article published on 19 November 2012

Observing movement disorders: best practice proposal in the use of video recording in clinical practice

scientific article published on 17 November 2018

Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease

scientific article

Patient with rapidly evolving neurological disease with neuropathological lesions of Creutzfeldt-Jakob disease, Lewy body dementia, chronic subcortical vascular encephalopathy and meningothelial meningioma

scientific article

Pharmacodynamics of a low subacute levodopa dose helps distinguish between multiple system atrophy with predominant Parkinsonism and Parkinson's disease

scientific article published on 14 November 2015

Prion disease: diagnostic value of cerebrospinal fluid markers.

scientific article

Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits.

scientific article published in April 1998

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

scientific article

Prion protein glycosylation is sensitive to redox change

scientific article published on 01 December 1999

Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development

article

Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease

scientific article published on 24 October 2018

Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels

scientific article published on 15 February 2017

Pterandric acid--its isolation, synthesis and stereochemistry

scientific article

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease

scientific article

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

scientific article published on 01 January 2018

Regional pattern of microgliosis in sporadic Creutzfeldt-Jakob disease in relation to phenotypic variants and disease progression

scientific article published on 18 January 2018

Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings

scientific article published on December 2015

Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease.

scientific article

Skin biopsy and I-123 MIBG scintigraphy findings in idiopathic Parkinson's disease and parkinsonism: a comparative study.

scientific article published on 17 March 2015

Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency.

scientific article published on 21 May 2016

Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease

scientific article published on 14 March 2014

Skin α-synuclein deposits differ in clinical variants of synucleinopathy: an in vivo study

scientific article published in Scientific Reports

Spine Topographical Distribution of Skin α-Synuclein Deposits in Idiopathic Parkinson Disease

scientific article published on 10 April 2017

Sporadic Fatal Insomnia in Europe: Phenotypic features and diagnostic challenges

scientific article published on 31 August 2018

Sporadic fatal insomnia in a fatal familial insomnia pedigree

scientific article published in March 2008

Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease.

scientific article published on 13 July 2008

Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.

scientific article

The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias

scientific article

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

scientific article published in January 2018

The Thr183Ala Mutation, Not the Loss of the First Glycosylation Site, Alters the Physical Properties of the Prion Protein

scientific article published in March 2000

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

scientific article

The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits.

scientific article published in August 2011

Towards an early clinical diagnosis of sporadic CJD VV2 (ataxic type).

scientific article

Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.

scientific article published on 26 April 2018

Type 1 protease resistant prion protein and valine homozygosity at codon 129 of PRNP identify a subtype of sporadic Creutzfeldt-Jakob disease.

scientific article published in November 1999

Typing prion isoforms.

scientific article published in March 1997

Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

scientific article published on 23 June 2012

Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.

scientific article

List of works by Sabina Capellari

'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2.

A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family

A case of fatal familial insomnia in Africa

A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.

A new potential biomarker for dementia with Lewy bodies: Skin nerve α-synuclein deposits.

A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea

A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia

A refined method for molecular typing reveals that co-occurrence of PrP(Sc) types in Creutzfeldt-Jakob disease is not the rule

A subtype of sporadic prion disease mimicking fatal familial insomnia.

Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the gene

Age of onset in genetic prion disease and the design of preventive clinical trials

Allelic origin of the abnormal prion protein isoform in familial prion diseases

An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.

An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia

Analyses of protease resistance and aggregation state of abnormal prion protein across the spectrum of human prions

Analysis of Conformational Stability of Abnormal Prion Protein Aggregates across the Spectrum of Creutzfeldt-Jakob Disease Prions

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease

Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.

Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature.

Behçet disease presenting with movement disorders and antibasal ganglia antibodies.

Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy

Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease

Cerebrospinal Fluid Biomarkers in Patients with Frontotemporal Dementia Spectrum: A Single-Center Study

Characterization of the F198S prion protein mutation: enhanced glycosylation and defective refolding.

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

Clinical pharmacokinetics of pramipexole, ropinirole and rotigotine in patients with Parkinson's disease

Cognitive Rehabilitation and Transcranial Direct Current Stimulation in a Patient with Posterior Cortical Atrophy: An fMRI Study

Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene

Creutzfeldt-Jakob disease with long duration and panencephalopathic lesions: molecular analysis of one case.

Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and Aβ42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants

Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family.

Early pathologic and biochemical changes in Creutzfeldt-Jakob disease: study of brain biopsies

Eating disorder as a psychiatric onset of juvenile Huntington's disease

Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD.

Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study

Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.

From ritual sword duel to electrophysiology: hyperactive facial motor nucleus in hemifacial spasm

Gait disorders in fatal familial insomnia.

Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis

Genomics and epigenomics

High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.

Human figure drawing distinguishes Alzheimer's patients: a cognitive screening test study

Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing

Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification

Inherited prion disease caused by the V210I mutation: transmission to transgenic mice.

Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Lack of association between five serotonin metabolism-related genes and medication overuse headache

Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts

Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?

MV2 subtype of sporadic Creutzfeldt-Jakob disease presenting as corticobasal syndrome.

Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study.

Mechanisms of phenotypic heterogeneity in prion, Alzheimer and other conformational diseases

Messenger RNA processing is altered in autosomal dominant leukodystrophy

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).

Mixed brain pathologies in dementia: the BrainNet Europe consortium experience

Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases

Molecular Pathology of Fatal Familial Insomnia ⬇️

Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation

Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt-Jakob disease patients.

Neurosyphilis orofacial dyskinesia: the candy sign

Observing movement disorders: best practice proposal in the use of video recording in clinical practice

Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease

Patient with rapidly evolving neurological disease with neuropathological lesions of Creutzfeldt-Jakob disease, Lewy body dementia, chronic subcortical vascular encephalopathy and meningothelial meningioma

Pharmacodynamics of a low subacute levodopa dose helps distinguish between multiple system atrophy with predominant Parkinsonism and Parkinson's disease

Prion disease: diagnostic value of cerebrospinal fluid markers.

Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits.

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

Prion protein glycosylation is sensitive to redox change

Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development

Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease

Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels